Article
V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers.
Surgery - 1 May 2002
Lecube Albert, Hernandez Cristina, Oriola Josep, Galard Rosa, Gémar Enrique, Mesa Jorge, Simó Rafael
Abstract excerpt
BACKGROUND: Only 9 families with familial medullary thyroid carcinoma due to V804M mutation have been reported until now. We describe a large kindred with not only heterozygous but also homozygous members with the V804M mutation. This is, to our knowledge, the first report of a homozygous RET mutation. METHODS: Fifty-three members from 4 successive generations of a family with a high level of consanguinity...
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